Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02563:Pabpn1l'

298732

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pabpn1l

Ensembl Gene

ENSMUSG00000069867

Gene Name

poly(A)binding protein nuclear 1-like

Synonyms

LOC382035, ePABP2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02563

Quality Score

Status

Chromosome

Chromosomal Location

123346210-123349474 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123347122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 228 (T228S)

Ref Sequence

ENSEMBL: ENSMUSP00000090747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015157] [ENSMUST00000093059] [ENSMUST00000127664] [ENSMUST00000127984] [ENSMUST00000212966]

AlphaFold

Q5XFR0

Predicted Effect

probably benign
Transcript: ENSMUST00000015157

SMART Domains

Protein: ENSMUSP00000015157
Gene: ENSMUSG00000015013

Domain	Start	End	E-Value	Type
Pfam:Sybindin	5	138	3.3e-12	PFAM
Pfam:Sedlin_N	7	137	7.3e-38	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000093059
AA Change: T228S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000090747
Gene: ENSMUSG00000069867
AA Change: T228S

Domain	Start	End	E-Value	Type
RRM	144	216	2.44e-18	SMART
low complexity region	252	266	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127984

SMART Domains

Protein: ENSMUSP00000118997
Gene: ENSMUSG00000006362

Domain	Start	End	E-Value	Type
low complexity region	47	62	N/A	INTRINSIC
TAFH	148	238	5.46e-52	SMART
low complexity region	309	318	N/A	INTRINSIC
Pfam:NHR2	356	422	2.3e-38	PFAM
PDB:2KYG\|C	456	485	2e-10	PDB
Pfam:zf-MYND	533	569	6.9e-10	PFAM
low complexity region	590	613	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183603

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212966
AA Change: T243S

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	A	T	2: 35,270,410 (GRCm39)	V97E	probably damaging	Het
Abhd16a	C	T	17: 35,320,221 (GRCm39)	T362M	probably damaging	Het
Adam23	T	G	1: 63,607,136 (GRCm39)		probably benign	Het
Apeh	C	A	9: 107,970,908 (GRCm39)	R87L	possibly damaging	Het
Arid3a	T	A	10: 79,786,717 (GRCm39)	M490K	probably damaging	Het
Atp6v1b1	T	A	6: 83,732,433 (GRCm39)	V251D	probably benign	Het
Cog8	C	T	8: 107,783,055 (GRCm39)	R78Q	possibly damaging	Het
Cyld	T	C	8: 89,462,522 (GRCm39)	I701T	probably damaging	Het
Dmgdh	A	G	13: 93,811,047 (GRCm39)		probably benign	Het
Dnm1	T	C	2: 32,205,931 (GRCm39)		probably null	Het
Dop1b	T	A	16: 93,574,293 (GRCm39)	V2D	probably damaging	Het
Dusp22	A	T	13: 30,889,628 (GRCm39)	S70C	possibly damaging	Het
Dync2h1	T	C	9: 7,035,700 (GRCm39)	Q3415R	possibly damaging	Het
Dysf	T	C	6: 84,163,498 (GRCm39)		probably benign	Het
Fam114a1	G	A	5: 65,163,491 (GRCm39)		probably null	Het
Fam20a	T	A	11: 109,568,620 (GRCm39)	Q302L	possibly damaging	Het
Fancm	T	A	12: 65,139,236 (GRCm39)	L374H	probably damaging	Het
Fcgbpl1	G	A	7: 27,857,317 (GRCm39)	E2222K	probably benign	Het
Fgf17	G	A	14: 70,874,178 (GRCm39)	Q204*	probably null	Het
Gap43	T	C	16: 42,112,495 (GRCm39)	T89A	probably benign	Het
Gm5069	A	G	1: 180,155,464 (GRCm39)		probably benign	Het
Gm9913	C	T	2: 125,348,254 (GRCm39)		probably benign	Het
Gpr174	T	C	X: 106,336,854 (GRCm39)	L222P	probably benign	Het
Grid2	A	T	6: 64,322,857 (GRCm39)	Q619L	possibly damaging	Het
Hoxc13	A	G	15: 102,830,233 (GRCm39)	D204G	possibly damaging	Het
Itgav	T	C	2: 83,601,580 (GRCm39)	V317A	probably benign	Het
Keg1	A	T	19: 12,696,521 (GRCm39)	N288I	probably damaging	Het
Ksr1	C	T	11: 78,935,684 (GRCm39)	V234I	possibly damaging	Het
Lrp1	T	A	10: 127,387,555 (GRCm39)	D3365V	probably damaging	Het
Luc7l3	A	T	11: 94,190,894 (GRCm39)		probably null	Het
Mta2	T	C	19: 8,925,415 (GRCm39)	I348T	probably benign	Het
Nphp4	A	G	4: 152,640,677 (GRCm39)	I1015V	probably benign	Het
Nup214	C	T	2: 31,867,872 (GRCm39)	S113F	probably damaging	Het
Or4f7	T	C	2: 111,644,162 (GRCm39)	K303R	probably benign	Het
Paxx	T	C	2: 25,349,674 (GRCm39)	*206W	probably null	Het
Pcdhb10	A	G	18: 37,546,126 (GRCm39)	T401A	probably benign	Het
Ppp1r3a	A	C	6: 14,719,761 (GRCm39)	D384E	probably benign	Het
Rif1	T	C	2: 51,967,077 (GRCm39)	V122A	probably damaging	Het
Scn4b	T	C	9: 45,057,980 (GRCm39)	L24P	probably damaging	Het
Sec22c	T	C	9: 121,513,716 (GRCm39)		probably benign	Het
Sh3rf2	A	G	18: 42,289,207 (GRCm39)	D676G	probably damaging	Het
Slc20a1	A	G	2: 129,049,604 (GRCm39)	T289A	probably benign	Het
Tekt2	T	C	4: 126,218,418 (GRCm39)	D84G	possibly damaging	Het
Tgfbr2	T	A	9: 115,959,066 (GRCm39)	N116I	probably benign	Het
Tmem196	A	G	12: 119,910,209 (GRCm39)	M1V	probably null	Het
Tnn	A	G	1: 159,942,123 (GRCm39)	V1125A	probably damaging	Het
Vmn2r51	A	T	7: 9,834,243 (GRCm39)	M265K	probably benign	Het
Zfp319	T	C	8: 96,050,362 (GRCm39)		probably benign	Het
Zfp65	A	T	13: 67,856,184 (GRCm39)	V365E	possibly damaging	Het
Zp3	T	A	5: 136,016,464 (GRCm39)		probably null	Het

Other mutations in Pabpn1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0928:Pabpn1l	UTSW	8	123,349,358 (GRCm39)	missense	probably benign	0.03
R0940:Pabpn1l	UTSW	8	123,349,183 (GRCm39)	missense	probably benign	0.03
R5716:Pabpn1l	UTSW	8	123,347,160 (GRCm39)	missense	probably damaging	1.00
R8466:Pabpn1l	UTSW	8	123,347,625 (GRCm39)	missense	possibly damaging	0.48
R8534:Pabpn1l	UTSW	8	123,349,358 (GRCm39)	missense	probably benign	0.03
R9602:Pabpn1l	UTSW	8	123,347,101 (GRCm39)	missense	probably benign	0.03

Posted On

2015-04-16